8pter-p23.1CNV Type: Deletion
Largest CNV size: 6900000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders.
Deletion
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
ozgen_09_ASD_discovery_cases-patient1
12
F
ASD
Dysmorphism, generalized hypotonia, overall cognitive and motor skills equivalent to a 2-3 year old
Equivalent to a 2-3 year old
0
6907624
6900000
NCBI36
Deletion
No
Controls
No Control Data Available
No Animal Model Data Available